All variants in the DMD gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages.
NOTE: for MLPA-detected deletion/duplication variants we use a probe-based HGVS description, for the exon-based description check the "Published as" column.
Information The variants shown are described using the NM_004006.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.(fs*) - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - B. Augello
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.? - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.1-?_6438+?del - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Lorena Travaglini
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.0? p.0? - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del ex1ex44del, c.-244_6438+?del  - DMD_010144 - PubMed: Neri 2020, Journal: Neri 2020 - - Germline/De novo (untested) - - - 0 - Carmela Scuderi
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.? - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33211495_33339377)del del ex1-44 - DMD_010144 - PubMed: Zhang 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.0? p.0? - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del c.-244_(6438+1_6439-1)del - DMD_010144 del incl. promotor PubMed: Tuffery-Giraud 2009, UMD 3014 database - - Germline - - - 0 - Johan den Dunnen
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.0? p.0? - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del c.-244_(6438+1_6439-1)del - DMD_010144 - Vancso ESHG2008 P01.221 - - Germline - - - 0 - Johan den Dunnen
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.? - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del del ex1m-44; c.-244_(6438+1_6439-1)del - DMD_010144 - PubMed: Wang 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 0i_44i c.-244(_-183)_(6381_6537){0} r.? p.? - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del del ex1-44; c.-244_(6438+1_6439-1)del - DMD_010144 - PubMed: De Almeida 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 0i_44 c.-244(_-183)_(6381_6537){0} r.0 p.0 - pathogenic (recessive) g.(31986533_32235090)_(33229612_33357494)del g.(31968416_32216973)_(33339377_?)del del ex1-44; c.-244_(6438+1_6439-1)del - DMD_010144 - PubMed: Polavarapu 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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